Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338924

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs80338924(-;-)
Make rs80338924(-;AG)
ReferenceGRCh38 38.1/141
Chromosome5
Position149027984
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338924
ebirs80338924
HLIrs80338924
Exacrs80338924
Varsomers80338924
Maprs80338924
PheGenIrs80338924
hapmaprs80338924
1000 genomesrs80338924
hgdprs80338924
ensemblrs80338924
gopubmedrs80338924
geneviewrs80338924
scholarrs80338924
googlers80338924
pharmgkbrs80338924
gwascentralrs80338924
openSNPrs80338924
23andMers80338924
23andMe allrs80338924
SNP Nexus

SNPshotrs80338924
SNPdbers80338924
MSV3drs80338924
GWAS Ctlgrs80338924
Max Magnitude0
OMIM608206
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338924(;)
Alt rs80338924(;)
Reference rs80338924(AG;AG)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type 4C
Reversed 1
HGVS NC_000005.9:g.148407547_148407548delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002583.3,


[PMID 14574644OA-icon.png] Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.